Mutation Details for c.3367G>C

cDNA Name

c.3367G>C

Protein Name

p.Gly1123Arg

Exon or Intron

exon 20

Legacy Exon or Intron

exon 17b

Legacy Name

G1123R

Other Details

This missense mutation in exon 17B of the CFTR gene was detected by SSCP/heteroduplex analysis followed by direct sequencing. G1123R may also affect splicing since the final base of an exon tends to be a G residue. We have observed this mutation only once in an English patient. We have also observed the 1461ins4 mutation, furst reported by Zielinski et al. (NL #52), in two unrelated English CF patients. This mutation may be worth screening for an uncharacterized CF chromosomes from the UK.

Contributors

Wallace A,
Tassabehji M
1993-11-24

Institute

St. Mary's Hospital
Manchester, UK

Submitted Phenotype Details

Reference

Wallace & Tassabehji (NL#60)

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The Database was last updated at Apr 25, 2011